Property Summary

NCBI Gene PubMed Count 35
Grant Count 37
R01 Count 15
Funding $9,235,294.87
PubMed Score 68.95
PubTator Score 42.04

Knowledge Summary

Patent

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Gene RIF (26)

PMID Text
26892125 2 novel GPIHBP1 missense mutations in 2 unrelated patients as the cause of their severe hypertriglyceridemia
25911085 GPIHBP1 mutations should be considered in neonates with chylomicronemia negative for mutations in LPL gene
25873395 the two domains of GPIHBP1 interact independently with LPL and the functionality of LPL depends on its localization on GPIHBP1
25387803 GPIHBP1 missense mutations leading to protein multimerization prevent lipoprotein lipase binding.
25131724 No GPIHBP1 mutations were identified in a cohort of patients with diabetic lipemia.
24847059 an extra cysteine in the GPIHBP1 Ly6 motif results in multimerization of GPIHBP1, defective LPL binding, and severe hypertriglyceridemia.
24793350 patient with type I hyperlipoproteinemia harbored homozygous mutation in case series
24704550 Wild-type lipoprotein lipase (LPL) and a mutated (S447X-LPL) protein bind to the endothelial cell LPL transporter GPIHBP1 with equal efficiency.
24589565 Homozygosity for a deletion of exons 3 and 4 of GPIHBP1 results in Type 1 hyperlipoproteinemia.
22239554 Mutations in GPIHBP1 are rare but the associated clinical phenotype of hypertriglyceridaemia is severe.
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AA Sequence

MKALGAVLLALLLCGRPGRGQTQQEEEEEDEDHGPDDYDEEDEDEVEEEETNRLPGGRSRVLLRCYTCKS      1 - 70
LPRDERCNLTQNCSHGQTCTTLIAHGNTESGLLTTHSTWCTDSCQPITKTVEGTQVTMTCCQSSLCNVPP     71 - 140
WQSSRVQDPTGKGAGGPRGSSETVGAALLLNLLAGLGAMGARRP                              141 - 184
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Text Mined References (36)

PMID Year Title
26892125 Novel mutations in the GPIHBP1 gene identified in 2 patients with recurrent acute pancreatitis.
25911085 A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene.
25873395 2015 Evidence for Two Distinct Binding Sites for Lipoprotein Lipase on Glycosylphosphatidylinositol-anchored High Density Lipoprotein-binding Protein 1 (GPIHBP1).
25387803 2015 GPIHBP1 missense mutations often cause multimerization of GPIHBP1 and thereby prevent lipoprotein lipase binding.
25172036 2015 Apolipoprotein C-II Tuzla: a novel large deletion in APOC2 caused by Alu-Alu homologous recombination in an infant with apolipoprotein C-II deficiency.
25131724 2014 Quantification and genotyping of lipoprotein lipase in patients with diabetic lipaemia.
24847059 2014 Multimerization of glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) and familial chylomicronemia from a serine-to-cysteine substitution in GPIHBP1 Ly6 domain.
24793350 Genotype-phenotype relationships in patients with type I hyperlipoproteinemia.
24704550 2014 Equivalent binding of wild-type lipoprotein lipase (LPL) and S447X-LPL to GPIHBP1, the endothelial cell LPL transporter.
24614124 2014 Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia.
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